遺伝性平滑筋腫症−腎細胞がん症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000143.4(FH):c.905-1G>C	FH	Likely pathogenic	1	241667546	241667546	C	G	criteria provided, single submitter	ClinGen:CA345438437
single nucleotide variant	NM_000143.4(FH):c.700A>C (p.Thr234Pro)	FH	Likely pathogenic	1	241671941	241671941	T	G	criteria provided, single submitter	ClinGen:CA345439217
single nucleotide variant	NM_000143.4(FH):c.1486C>T (p.Gln496Ter)	FH	Likely pathogenic	1	241661175	241661175	G	A	criteria provided, single submitter	ClinGen:CA345450387
single nucleotide variant	NM_000143.4(FH):c.555+5G>C	FH	Likely pathogenic	1	241675262	241675262	C	G	criteria provided, single submitter	ClinGen:CA645372523
single nucleotide variant	NM_000143.4(FH):c.1250T>G (p.Leu417Ter)	FH	Likely pathogenic	1	241663877	241663877	A	C	criteria provided, single submitter	ClinGen:CA345436902
single nucleotide variant	NM_000143.4(FH):c.378+2T>C	FH	Likely pathogenic	1	241676901	241676901	A	G	criteria provided, single submitter	ClinGen:CA345440402
single nucleotide variant	NM_000143.4(FH):c.450T>A (p.Asn150Lys)	FH	Likely pathogenic	1	241675372	241675372	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA345440080
single nucleotide variant	NM_000143.4(FH):c.1256C>T (p.Ser419Leu)	FH	Likely pathogenic	1	241663871	241663871	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345436872
single nucleotide variant	NM_000143.4(FH):c.566A>T (p.Asp189Val)	FH	Likely pathogenic	1	241672075	241672075	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617118
Deletion	NM_000143.4(FH):c.1391-2del	FH	Likely pathogenic	1	241661272	241661272	CT	C	criteria provided, single submitter	ClinGen:CA16617113